Table 3.
Survival GWAS results for loci showing suggestive evidence of association with time to first caries incidence
| SNP | CHR | BP | EA/RA | MAF | P | HR (95% CI) | Gene nearby and biological relevance |
|---|---|---|---|---|---|---|---|
| rs35324031 | 10 | 55529375 | G/A | 0.060 | 1.48E-7 | 0.41 (0.30-0.58) | PCDH15: is associated with Usher type 1 syndrome involved in congenital hearing loss [69] |
| rs34201252 | 9 | 137426383 | G/A | 0.054 | 1.77E-7 | 0.40 (0.28-0.56) | COL5A1: is associated with Ehlers-Danlos syndrome presenting with dental pathology [70] and canine agenesis [71] |
| RXRA: encodes retinoid X receptor α involved in retinoic acid-mediated gene activation | |||||||
| rs4710384 | 6 | 63554552 | G/A | 0.155 | 4.84E-7 | 0.56 (0.44-0.70) | NA |
| rs112019823 | 1 | 194344257 | C/T | 0.114 | 1.00E-6 | 0.53 (0.41-0.68) | NA |
| rs7503428 | 17 | 32372318 | G/C | 0.362 | 2.10E-6 | 0.61 (0.50-0.75) | ASIC2: encodes a member of acid-sensing ion channels involved in the perception of sour taste [56] and is associated with gingival inflammation [58] |
| rs35643512 | 2 | 126373265 | G/T | 0.162 | 3.38E-6 | 0.56 (0.44-0.72) | NA |
| rs12834574 | 23 | 131692337 | C/T | 0.073 | 3.94E-6 | 0.57 (0.44-0.72) | NA |
| rs28567072 | 8 | 107883740 | A/G | 0.094 | 5.36E-6 | 0.52 (0.39-0.69) | ABRA: encodes a muscle specific actin-binding protein involved in skeletal muscle hypertrophy [72] and arteriogenesis [73] |
| OXR1: is an important regulator of neuronal survival in response to oxidative stress [74] | |||||||
| rs9399396 | 6 | 142564217 | C/T | 0.201 | 6.69E-6 | 0.59 (0.47-0.75) | VTA1: encodes a protein involved in trafficking of the multivesicular body and is associated with arthrogryposis [75] |
| ADGRG6: is associated with earlobe attachment [76] | |||||||
| GJE1: is associated with hearing loss [77] | |||||||
| NMBR: a member of the mammalian bombesin receptor family involved in several physiological effects [78] | |||||||
| rs11230097 | 11 | 59646339 | T/C | 0.182 | 7.26E-6 | 0.60 (0.48-0.75) | TCN1: is associated with colorectal cancer [79] |
| OOSP family: is associated with postfertilization development | |||||||
| CBLIF: encodes a glycoprotein | |||||||
| MRPL16: is associated with colorectal tumors [80] | |||||||
| STX3: participates in granule-granule fusion and is associated with Sjögren’s syndrome [81] | |||||||
| OR10V1: encodes olfactory receptor involved in smell perception | |||||||
| MS4A3: is associated with myeloid differentiation in human hematopoiesis [82] | |||||||
| rs35508695 | 6 | 152377709 | G/A | 0.071 | 7.30E-6 | 0.51 (0.38-0.69) | ESR1: encodes estrogen receptor alpha and is associated with periodontitis [61], and dental fluorosis [62] |
| SYNE1: encodes spectrin repeat containing protein associated with spinocerebellar ataxia [83] | |||||||
| rs3111790 | 4 | 80558720 | G/T | 0.387 | 7.39E-6 | 0.63 (0.52-0.77) | NA |
| rs78891138 | 3 | 109679425 | T/C | 0.055 | 7.75E-6 | 0.46 (0.33-0.65) | NA |
| rs139737462 | 4 | 126756165 | G/A | 0.056 | 9.85E-6 | 0.45 (0.32-0.64) | NA |
Note: EA: effect allele; RA: reference allele; MAF: minor allele frequency; HR: hazard ratios; NA: intergenic (gene desert).